Variant report
Variant | nsv975913 |
---|---|
Chromosome Location | chr11:49803659-49829555 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs138384326 | chr11:49812000-49812001 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs532232041 | chr11:49812001-49812002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs563152983 | chr11:49812016-49812017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs181160004 | chr11:49812017-49812018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs576568349 | chr11:49812107-49812108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs72916221 | chr11:49812112-49812113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs139768843 | chr11:49812122-49812123 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs537803102 | chr11:49812123-49812124 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs4881647 | chr11:49812148-49812149 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs186187307 | chr11:49812166-49812167 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs533791010 | chr11:49812227-49812228 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs190466216 | chr11:49812228-49812229 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs573034027 | chr11:49812234-49812235 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs538762715 | chr11:49812246-49812247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs558596252 | chr11:49812268-49812269 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs181943017 | chr11:49812276-49812277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs544585154 | chr11:49812317-49812318 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs527813225 | chr11:49812323-49812324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs561474761 | chr11:49812356-49812357 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs575055733 | chr11:49812371-49812372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs147451908 | chr11:49812372-49812373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs564487049 | chr11:49812390-49812391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs533335693 | chr11:49812399-49812400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs552189755 | chr11:49812432-49812433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs111848446 | chr11:49812438-49812439 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs552306974 | chr11:49812474-49812475 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs562530910 | chr11:49812502-49812503 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs186556485 | chr11:49812515-49812516 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs11040536 | chr11:49812523-49812524 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs568289619 | chr11:49812637-49812638 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531505409 | chr11:49812652-49812653 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs551775536 | chr11:49812662-49812663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs570333875 | chr11:49812681-49812682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs539199799 | chr11:49812707-49812708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs558634854 | chr11:49812721-49812722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs548393831 | chr11:49812755-49812756 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs537881772 | chr11:49812762-49812763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs554933676 | chr11:49812766-49812767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Wilms tumour | 21544195 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Schizophrenia | 23813976 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:49812000-49812800 | Enhancers | Dnd41 | blood |